Varaico: Literature-Extracted Genetic Variants

Gene:ADORA1
Variant:p.H306N

ADORA1

70 papers

RefSeq Summary

The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand bind...

Pfam Domains

7tm_1aa 26–288UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

adenosine A1 receptor

HGNC Alias Symbol

RDC7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000674.3
p.H306N
c.916C>A
Surrounding Variants
1 paper
NM_000674.3
p.N304N
c.912T>C
1 paper
NM_000674.3
p.R308H
c.923G>A
1 paper
NM_000674.3
p.P313S
c.937C>T
1 paper
NM_000674.3
p.I315V
c.943A>G
1 paper
NM_000674.3
p.D316fs
c.946_947fs
1 paper
NM_000674.3
p.D325G
c.974A>G
1 paper
NM_000674.3
p.P285P
c.855C>T
7 papers
NM_000674.3
p.G279S
c.835G>A
1 paper
NM_000674.3
p.T270I
c.809C>T
1 paper
NM_000674.3
p.T270A
c.808A>G
1 paper
NM_000674.3
p.S267I
c.800G>T
1 paper
NM_000674.3
p.P266A
c.796C>G
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